Identification of a novel NOG gene mutat
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M. Mangino; E. Flex; M.C. Digilio; A. Giannotti; B. Dallapiccola
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Article
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2002
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John Wiley and Sons
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English
β 202 KB
## Symphalangism (SYM or SYM1 ) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which